Loading ...
Sorry, an error occurred while loading the content.


Expand Messages
  • donnabeales
    Jul 29, 2014

      Hi Rachel,

      Sorry for the delay in responding, I don’t read the forum as often as I once did.

      In short, I made my own diagnosis, but in truth I have to partially credit a very knowledgeable medical friend who shall remain nameless, but who raised the possibility nearly 4 years ago as a “differential diagnosis” after I eradicated HT. However, all the dots did not quite connect then, and the clinical picture did not become apparent until over time, I grew much worse.

       I was very ill in December 2013.  I went to the emergency room after developing severe chest pain, dizziness, and while there, discovered that I was also experiencing crashing blood pressure.  Only then did the picture become much clearer. Unfortunately the work-up they did that night was for a heart attack, and I was sent home with advice to follow up with various doctors, which got me nowhere. One kind MD suggested my problem was “stress.”  (!)  I don’t know why multiple MDs ignored the obvious, my abnormal vital signs (low BP, pulse).

      I happened to attend a medical ed program on anaphylaxis in January 2014, and I made the connection when the speaker touched on mastocytosis.  A combination of eating chocolate, having a glass of wine and taking an NSAID all on the same day may have pushed my body right over the edge.  It’s possible that I was having an attack of what’s called Kounis syndrome, a heart condition related to mastocytosis, but we will never know.

      I saw an immunologist in February, but as I did not exactly fit the classic picture, I was told it probably wasn’t mastocytosis—but knowledge is power.  I had already read extensively about mastocytosis, and learned that there are all kinds of presentations of this disease; some are very unusual.  So I reached out to a national expert for a general opinion. After he responded, with his permission, I presented his email to my local immunologist and demanded to be tested (blood, urine, and when those were positive, a bone marrow biopsy).  Because of the evidence of a mast cell disorder, I received a referral to the Mast Cell Clinic at Brigham & Women’s Hospital, Boston.

      One institution missed the bone marrow diagnosis completely. I’m told by my new doctor, who is a mast cell expert, that this is all too common— apparently the disease is hard for pathologists to recognize as it is very rare. On his advice, I had my bone marrow slides sent to the Mast Cell Clinic where they made the final diagnosis.

      So getting a diagnosis can be very difficult.  Depending on where you live, I would inquire of one of the non-profit mastocytosis groups to find a doctor in your area.

      I can’t say I really feel better physically, but knowing has marginally improved my state of mind, and I now know what to think about and look for related to my disease.  I’m told that familial (family-related) cases are very rare amongst this rare disease, but they do happen.

      Here are a couple of non-profits that have been helpful to me:





    • Show all 6 messages in this topic